Canonical Allele Identifier: CA2796088831

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722009dup , CM000674.2:g.55722009dup	GRCh38
NC_000012.11:g.56115793dup , CM000674.1:g.56115793dup	GRCh37
NC_000012.10:g.54402060dup	NCBI36
NG_008606.1:g.6643dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+62dup MANE Select	ENSP00000257895.6:n.569+62dup
ENST00000257895.9:c.569+62dup	ENSP00000257895.5:n.569+62dup
ENST00000257899.3:c.591+55dup
ENST00000547072.5:c.278+62dup	ENSP00000449927.1:n.278+62dup
ENST00000548082.1:c.569+62dup	ENSP00000447128.1:n.569+62dup
ENST00000548123.1:c.300+515dup
ENST00000548486.1:n.641dup
ENST00000550412.5:c.*303dup	ENSP00000447650.1:n.*303dup
ENST00000550608.1:n.770dup
ENST00000551946.5:c.*434dup	ENSP00000450201.1:n.*434dup
ENST00000553160.1:n.406-186dup
NM_001199771.1:c.569+62dup	NP_001186700.1:n.569+62dup
NM_002905.3:c.569+62dup	NP_002896.2:n.569+62dup
NR_037658.1:n.628+62dup
NM_001199771.2:c.569+62dup	NP_001186700.1:n.569+62dup
NM_002905.5:c.569+62dup MANE Select	NP_002896.2:n.569+62dup
NM_001199771.3:c.569+62dup	NP_001186700.1:n.569+62dup